Variant report

Variant	rs72880576
Chromosome Location	chr2:172222634-172222635
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172218525..172220285-chr2:172222152..172224139,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11696032	0.89[ASN][1000 genomes]
rs16859370	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17219416	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72880595	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72882305	0.89[ASN][1000 genomes]
rs72882311	0.89[ASN][1000 genomes]
rs72882329	0.89[ASN][1000 genomes]
rs72882335	0.89[ASN][1000 genomes]
rs72882366	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1003130	chr2:172189196-172237268	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172205200-172224000	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:172211000-172242600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:172212400-172231400	Weak transcription	Esophagus	oesophagus
4	chr2:172214200-172226000	Weak transcription	Left Ventricle	heart
5	chr2:172214800-172231600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:172215000-172223000	Weak transcription	Fetal Stomach	stomach
7	chr2:172215400-172231800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:172215800-172231000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:172216400-172222800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr2:172216400-172231400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:172217000-172224800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:172217200-172225000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:172217200-172231400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:172221600-172222800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:172221800-172223200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:172221800-172225000	ZNF genes & repeats	GM12878-XiMat	blood
17	chr2:172222200-172223000	Enhancers	HepG2	liver
18	chr2:172222200-172223000	Weak transcription	NHEK	skin
19	chr2:172222200-172289600	Weak transcription	Gastric	stomach
20	chr2:172222400-172222800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
21	chr2:172222400-172222800	ZNF genes & repeats	Primary B cells from cord blood	blood
22	chr2:172222400-172222800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
23	chr2:172222400-172222800	ZNF genes & repeats	Aorta	Aorta
24	chr2:172222400-172222800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
25	chr2:172222400-172223000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:172222400-172223000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
27	chr2:172222400-172223400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
28	chr2:172222400-172240200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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